Partial trisomy 14q and monosomy 20q due to an unbalanced familial translocation
Abstract
Partial trisomy of distal 14q and monosomy of 20q are rare. There have been several reports of a partial distal trisomy 14q with characteristic clinical findings, including hypogonadism and a conotruncal cardiac anomaly. There is no deletion distal 20q syndrome. We have recently examined a newborn with this unique duplication/deletion syndrome. Case report: J.S. was the 2980 gm product of a term uneventful pregnancy delivered to a 24-year-old gravida 2, para 1001 mother. The newborn exam revealed a dysmorphic newborn male with a sloping forehead, bitemporal narrowing, glabellar furrowing and micrognathia. A systolic murmur was audible. The genital abnormalities were micropenis, hypospadias with chordee and bifid scrotum with prominent raphe, and gonads were palpable. A CAT scan of the head revealed grade I IVH. An echocardiogram showed a VSD, ASD and an AP window. A sonogram of the liver showed absence of the gallbladder. Chromosome analysis revealed an abnormal male karyotype containing a derivative 20, subsequently shown to be inherited as a result of malsegregation of a paternal translocation: 46,XY,-20,+der(20)t(14;20)(q32.1;q13.3)pat. The infant fed poorly and required tube feedings and was treated for congestive heart failure with Digoxin, Lasix and oxygen. A decreased cortisol level and cholestasis were noted. The infantmore »
- Authors:
-
- Albert Einstein College of Medicine, Bronx, NY (United States); and others
- Publication Date:
- OSTI Identifier:
- 134600
- Report Number(s):
- CONF-941009-
Journal ID: AJHGAG; ISSN 0002-9297; TRN: 95:005313-1336
- Resource Type:
- Journal Article
- Journal Name:
- American Journal of Human Genetics
- Additional Journal Information:
- Journal Volume: 55; Journal Issue: Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
- Subject:
- 55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOMES; CHROMOSOMAL ABERRATIONS; HUMAN CHROMOSOME 14; MORTALITY; NEONATES; CARDIOVASCULAR DISEASES; KARYOTYPE; UROGENITAL SYSTEM DISEASES; PHENOTYPE; HEREDITARY DISEASES; GENETICS
Citation Formats
Menasse-Palmer, L, Leo, J, and Cannizaro, L. Partial trisomy 14q and monosomy 20q due to an unbalanced familial translocation. United States: N. p., 1994.
Web.
Menasse-Palmer, L, Leo, J, & Cannizaro, L. Partial trisomy 14q and monosomy 20q due to an unbalanced familial translocation. United States.
Menasse-Palmer, L, Leo, J, and Cannizaro, L. 1994.
"Partial trisomy 14q and monosomy 20q due to an unbalanced familial translocation". United States.
@article{osti_134600,
title = {Partial trisomy 14q and monosomy 20q due to an unbalanced familial translocation},
author = {Menasse-Palmer, L and Leo, J and Cannizaro, L},
abstractNote = {Partial trisomy of distal 14q and monosomy of 20q are rare. There have been several reports of a partial distal trisomy 14q with characteristic clinical findings, including hypogonadism and a conotruncal cardiac anomaly. There is no deletion distal 20q syndrome. We have recently examined a newborn with this unique duplication/deletion syndrome. Case report: J.S. was the 2980 gm product of a term uneventful pregnancy delivered to a 24-year-old gravida 2, para 1001 mother. The newborn exam revealed a dysmorphic newborn male with a sloping forehead, bitemporal narrowing, glabellar furrowing and micrognathia. A systolic murmur was audible. The genital abnormalities were micropenis, hypospadias with chordee and bifid scrotum with prominent raphe, and gonads were palpable. A CAT scan of the head revealed grade I IVH. An echocardiogram showed a VSD, ASD and an AP window. A sonogram of the liver showed absence of the gallbladder. Chromosome analysis revealed an abnormal male karyotype containing a derivative 20, subsequently shown to be inherited as a result of malsegregation of a paternal translocation: 46,XY,-20,+der(20)t(14;20)(q32.1;q13.3)pat. The infant fed poorly and required tube feedings and was treated for congestive heart failure with Digoxin, Lasix and oxygen. A decreased cortisol level and cholestasis were noted. The infant died after a cardiopulmonary arrest at one month of age. No post-mortem was obtained. Clinical cytogenetic correlation (conotruncal abnormality and hypogonadism) with partial duplication of distal 14q was positive. This case helps to further delineate duplication 14q and a syndrome due to partial deletion 20q.},
doi = {},
url = {https://www.osti.gov/biblio/134600},
journal = {American Journal of Human Genetics},
number = Suppl.3,
volume = 55,
place = {United States},
year = {Thu Sep 01 00:00:00 EDT 1994},
month = {Thu Sep 01 00:00:00 EDT 1994}
}